Variant (rsID / SNP)

rs121907987

rs121907987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHGDH. Location: chromosome 1, position 120,286,529. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PHGDHPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:120286529
Cytoband: 1p12
HGVS: NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
Allele change: Missense_V490M

Associated conditions / phenotypes

PHGDH deficiency|See cases

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.